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rs113624356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs113624356(G;G)
Make rs113624356(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position66526181
GeneBBS1, ZDHHC24
is asnp
is mentioned by
dbSNPrs113624356
ebirs113624356
HLIrs113624356
Exacrs113624356
Varsomers113624356
Maprs113624356
PheGenIrs113624356
hapmaprs113624356
1000 genomesrs113624356
hgdprs113624356
ensemblrs113624356
gopubmedrs113624356
geneviewrs113624356
scholarrs113624356
googlers113624356
pharmgkbrs113624356
gwascentralrs113624356
openSNPrs113624356
23andMers113624356
23andMe allrs113624356
SNP Nexus

SNPshotrs113624356
SNPdbers113624356
MSV3drs113624356
GWAS Ctlgrs113624356
GMAF0.001377
Max Magnitude0
OMIM209901
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113624356(G;G)
Alt rs113624356(G;G)
Reference rs113624356(T;T)
Significance Pathogenic
Disease Bardet-Biedl syndrome 1 not provided Bardet-Biedl syndrome Retinal dystrophy
Variation info
Gene BBS1 ZDHHC24
CLNDBN Bardet-Biedl syndrome 1 not provided Bardet-Biedl syndrome Retinal dystrophy
Reversed 0
HGVS NC_000011.9:g.66293652T>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012926.24, RCV000082202.4, RCV000174408.2, RCV000210319.1,